Variant report

Variant	esv3394808
Chromosome Location	chr2:33709093-33709336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:
2	chr2:33700002..33701535-chr2:33708828..33711417,2	K562	blood:

Variant related genes	Relation type
ENSG00000152689	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567445674	chr2:33709108-33709109	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547688481	chr2:33709187-33709188	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556564668	chr2:33709198-33709199	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185633135	chr2:33709227-33709228	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545932981	chr2:33709261-33709262	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33703200-33709200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
4	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:33705000-33710800	Enhancers	Fetal Heart	heart
6	chr2:33705000-33714000	Weak transcription	Right Ventricle	heart
7	chr2:33705200-33709400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:33705600-33709600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:33705600-33710000	Weak transcription	Pancreas	Pancrea
10	chr2:33705800-33709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:33705800-33709600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:33706000-33709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:33706000-33714400	Weak transcription	Right Atrium	heart
14	chr2:33706200-33709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:33707400-33710600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:33707600-33709200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:33708000-33709600	Enhancers	Primary B cells from cord blood	blood
18	chr2:33708000-33713600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:33708600-33710400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:33708600-33710600	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:33708600-33710600	Enhancers	NHDF-Ad	bronchial
22	chr2:33708800-33710000	Enhancers	HSMMtube	muscle
23	chr2:33708800-33710400	Flanking Active TSS	GM12878-XiMat	blood
24	chr2:33709000-33709200	Bivalent Enhancer	Osteobl	bone
25	chr2:33709000-33709400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:33709000-33709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:33709000-33709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:33709000-33710000	Weak transcription	Left Ventricle	heart
29	chr2:33709000-33710000	Weak transcription	Psoas Muscle	Psoas
30	chr2:33709000-33710200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:33709200-33709400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:33709200-33709400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:33709200-33709600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:33709200-33709800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:33709200-33709800	Enhancers	HepG2	liver
36	chr2:33709200-33709800	Flanking Active TSS	Osteobl	bone
37	chr2:33709200-33710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:33709200-33710200	Enhancers	NHLF	lung

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